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Paisley Sue

Cocker Spaniel

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Registration

Microchip: 985141002774626

Genetic Breed Result

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Cocker Spaniel

Cocker Spaniels are handsome and intelligent hunting dogs that are also well-suited to life as a loving family pet.

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Health Summary

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Paisley Sue is at increased risk for one genetic health condition.

And inherited one variant that you should learn more about.

Intervertebral Disc Disease (Type I)

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Paisley Sue inherited both copies of the variant we tested

How to interpret this result

Paisley Sue has two copies of an FGF4 retrogene on chromosome 12. In some breeds such as Beagles, Cocker Spaniels, and Dachshunds (among others) this variant is found in nearly all dogs. While those breeds are known to have an elevated risk of IVDD, many dogs in those breeds never develop IVDD. For mixed breed dogs and purebreds of other breeds where this variant is not as common, risk for Type I IVDD is greater for individuals with this variant than for similar dogs.

What is Intervertebral Disc Disease (Type I)?

Type I Intervertebral Disc Disease (IVDD) is a back/spine issue that refers to a health condition affecting the discs that act as cushions between vertebrae. With Type I IVDD, affected dogs can have a disc event where it ruptures or herniates towards the spinal cord. This pressure on the spinal cord causes neurologic signs which can range from a wobbly gait to impairment of movement. Chondrodystrophy (CDDY) refers to the relative proportion between a dog’s legs and body, wherein the legs are shorter and the body longer. There are multiple different variants that can cause a markedly chondrodystrophic appearance as observed in Dachshunds and Corgis. However, this particular variant is the only one known to also increase the risk for IVDD.

Exercise-Induced Collapse, EIC

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Paisley Sue inherited one copy of the variant we tested

What does this result mean?

This variant should not impact Paisley Sue’s health. This variant is inherited in an autosomal recessive manner, meaning that a dog needs two copies of the variant to show signs of this condition. Paisley Sue is unlikely to develop this condition due to this variant because she only has one copy of the variant.

Impact on Breeding

Your dog carries this variant and will pass it on to ~50% of her offspring. You can email breeders@embarkvet.com to discuss with a genetic counselor how the genotype results should be applied to a breeding program.

What is Exercise-Induced Collapse, EIC?

EIC has been linked to a mutation in the DNM1 gene, which codes for the protein dynamin. In the neuron, dynamin trucks neurotransmitter-filled vesicles from the cell body, where they are generated, to the dendrites. It is hypothesized in dogs affected with EIC, the mutation in DNM1 disrupts efficient neurotransmitter release, leading to a cessation in signalling and EIC.

Breed-Relevant Genetic Conditions

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Progressive Retinal Atrophy, prcd (PRCD Exon 1)

Identified in Cocker Spaniels

Familial Nephropathy (COL4A4 Exon 3, Cocker Spaniel Variant)

Identified in Cocker Spaniels

Glycogen storage disease Type VII, Phosphofructokinase Deficiency, PFK Deficiency (PFKM, Whippet and English Springer Spaniel Variant)

Identified in Cocker Spaniels

Acral Mutilation Syndrome (GDNF-AS, Spaniel and Pointer Variant)

Identified in Cocker Spaniels

Additional Genetic Conditions

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Traits

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Through Paisley Sue’s mitochondrial DNA we can trace her mother’s ancestry back to where dogs and people first became friends. This map helps you visualize the routes that her ancestors took to your home. Their story is described below the map.

Haplogroup

A1d

Haplotype

A269

Map

A1d

Paisley Sue’s Haplogroup

This female lineage can be traced back about 15,000 years to some of the original Central Asian wolves that were domesticated into modern dogs. The early females that represent this lineage were likely taken into Eurasia, where they spread rapidly. As a result, many modern breed and village dogs from the Americas, Africa, through Asia and down into Oceania belong to this group! This widespread lineage is not limited to a select few breeds, but the majority of Rottweilers, Afghan Hounds and Wirehaired Pointing Griffons belong to it. It is also the most common female lineage among Papillons, Samoyeds and Jack Russell Terriers. Considering its occurrence in breeds as diverse as Afghan Hounds and Samoyeds, some of this is likely ancient variation. But because of its presence in many modern European breeds, much of its diversity likely can be attributed to much more recent breeding.

A269

Paisley Sue’s Haplotype

Part of the large A1d haplogroup, this haplotype occurs most commonly in Cocker Spaniels. It’s a rare find!

The vast majority of Rottweilers have the A1d haplogroup.

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The Paternal Haplotype reveals a dog’s deep ancestral lineage, stretching back thousands of years to the original domestication of dogs.

Are you looking for information on the breeds that Paisley Sue inherited from her mom and dad? Check out her breed breakdown.

Paternal Haplotype is determined by looking at a dog’s Y-chromosome—but not all dogs have Y-chromosomes!

Why can’t we show Paternal Haplotype results for female dogs?

All dogs have two sex chromosomes. Female dogs have two X-chromosomes (XX) and male dogs have one X-chromosome and one Y-chromosome (XY). When having offspring, female (XX) dogs always pass an X-chromosome to their puppy. Male (XY) dogs can pass either an X or a Y-chromosome—if the puppy receives an X-chromosome from its father then it will be a female (XX) puppy and if it receives a Y-chromosome then it will be a male (XY) puppy. As you can see, Y-chromosomes are passed down from a male dog only to its male offspring.

Since Paisley Sue is a female (XX) dog, she has no Y-chromosome for us to analyze and determine a paternal haplotype.

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